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Endometrial cancer risk in women with germline BRCA1 or BRCA2 mutations: Multicenter cohort study

Journal of the National Cancer Institute Mar 19, 2021

de Jonge MM, de Kroon CD, Jenner DJ, et al. - In a large Dutch nationwide cohort study, the risk of endometrial cancer (EC) was assessed in BReast CAncer gene 1/2 ( BRCA1/2 ) mutation carriers. From the HEBON-cohort, a total of 5,980 BRCA1/2 (3,788 BRCA1, 2,151 gBRCA2, 41 both BRCA1/BRCA2) and 8,451 non- BRCA1/2 mutation carriers were identified. Development of EC in 58 BRCA1/2 and 33 non- BRCA1/2 mutation carriers was found over 119,296 and 160,841 person-years, respectively. Findings revealed the presence of 2- to 3-fold higher risk for EC in BRCA1/2 mutation carriers, with highest risk noted for the rare subgroups of serous-like and p53-abnormal EC in BRCA1 mutation carriers.

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